|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr).
|
30573803 |
2019 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient harboring a novel postzygotic variant in PDGFRB (c.1682_1684del, p.[Arg561_Tyr562delinsHis]) and presenting severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
|
31004414 |
2019 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a case of infantile myofibromatosis with predominant posterior fossa extradural involvement in a 14-year-old adolescent girl with a confirmed mutation in the PDGFRB gene.
|
30103666 |
2019 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to analyze the phosphorylation of important kinases in the NSTS-47 cell line derived from a tumor of a boy with infantile myofibromatosis who harbored the p.R561C mutation in PDGFR-beta.
|
30200486 |
2018 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As PDGFRB alterations are present in myopericytoma/myopericytomatosis and infantile myofibromatosis/myofibroma, these entities indeed lie within a histogenetic continuum.
|
28505006 |
2017 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
|
28334876 |
2017 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.
|
28183292 |
2017 |
|
Infantile myofibromatosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
|
28334876 |
2017 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the PDGFRB mutations previously identified in familial IM and overgrowth syndrome activate the receptor in the absence of ligand, supporting the hypothesis that these mutations cause the diseases.
|
26455322 |
2016 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here two siblings with infantile myofibromatosis and with a PDGFRB mutation identified by exome sequence analysis.
|
25158255 |
2014 |
|
Infantile myofibromatosis
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.
|
23731542 |
2013 |
|
Infantile myofibromatosis
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM.
|
23731537 |
2013 |
|
Infantile myofibromatosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.
|
23731542 |
2013 |
|
Infantile myofibromatosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM.
|
23731537 |
2013 |
|
Infantile myofibromatosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM.
|
23731537 |
2013 |
|
Infantile myofibromatosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Infantile myofibromatosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Infantile myofibromatosis
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|